ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.399A>T (p.Gln133His)

gnomAD frequency: 0.00001  dbSNP: rs1358899513
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299139 SCV001488218 uncertain significance Duchenne muscular dystrophy 2020-03-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DMD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with histidine at codon 133 of the DMD protein (p.Gln133His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.
Ambry Genetics RCV002375354 SCV002625037 uncertain significance Cardiovascular phenotype 2021-09-01 criteria provided, single submitter clinical testing The p.Q133H variant (also known as c.399A>T), located in coding exon 6 of the DMD gene, results from an A to T substitution at nucleotide position 399. The glutamine at codon 133 is replaced by histidine, an amino acid with highly similar properties. Based on data from gnomAD, the T allele has an overall frequency of 0.004552% (1/21968) total alleles studied, with 0 hemizygote(s) observed. The highest observed frequency was 0.01701% (1/5878) of African American alleles. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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